ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.725G>A (p.Arg242Gln)

gnomAD frequency: 0.00005  dbSNP: rs763822514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788215 SCV000927254 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536897 SCV003221081 uncertain significance Kostmann syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 242 of the HAX1 protein (p.Arg242Gln). This variant is present in population databases (rs763822514, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with HAX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 636401). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HAX1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004027363 SCV004880625 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The p.R242Q variant (also known as c.725G>A), located in coding exon 6 of the HAX1 gene, results from a G to A substitution at nucleotide position 725. The arginine at codon 242 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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